Lista de obras - Claire L Simpson - Dominio Público Uruguay

A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays

artículo científico publicado en 2005

A recurrent mutation in PARK2 is associated with familial lung cancer

artículo científico publicado en 2015

Amyotrophic lateral sclerosis as a complex genetic disease

artículo científico publicado en 2006

Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.

artículo científico publicado en 2017

Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans

artículo científico publicado en 2015

Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG

artículo científico publicado en 2011

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

artículo científico publicado en 2014

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

False-positive rates in two-point parametric linkage analysis

artículo científico publicado en 2014

Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies

artículo científico publicado en 2017

Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice

artículo científico publicado en 2013

Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis

artículo científico publicado en 2012

Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

artículo científico publicado en 2016

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

artículo científico publicado en 2014

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

artículo científico publicado en 2018

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

artículo científico publicado en 2014

Genome-wide linkage scan for prostate cancer susceptibility in Finland: evidence for a novel locus on 2q37.3 and confirmation of signal on 17q21-q22.

artículo científico publicado en 2011

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

artículo científico publicado en 2013

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

artículo científico publicado en 2014

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

artículo científico publicado en 2012

Large-scale pathways-based association study in amyotrophic lateral sclerosis

artículo científico publicado en 2007

Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease Study

artículo científico publicado en 2012

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

artículo científico publicado en 2010

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

artículo científico publicado en 2016

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

artículo científico publicado en 2013

Myopia in Chinese families shows linkage to 10q26.13.

artículo científico publicado en 2018

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

artículo científico publicado en 2013

Performance of random forests and logic regression methods using mini-exome sequence data

artículo científico publicado en 2011

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data

artículo científico publicado en 2011

Reply

artículo científico publicado en 2017

The genetic dissection of Myo7a gene expression in the retinas of BXD mice

artículo científico publicado en 2018

Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis

article

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

artículo científico publicado en 2008

Lista de obras de Claire L Simpson

A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays

A recurrent mutation in PARK2 is associated with familial lung cancer

Amyotrophic lateral sclerosis as a complex genetic disease

Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.

Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans

Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

False-positive rates in two-point parametric linkage analysis

Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies

Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice

Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis

Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Genome-wide linkage scan for prostate cancer susceptibility in Finland: evidence for a novel locus on 2q37.3 and confirmation of signal on 17q21-q22.

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Large-scale pathways-based association study in amyotrophic lateral sclerosis

Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease Study

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

Myopia in Chinese families shows linkage to 10q26.13.

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

Performance of random forests and logic regression methods using mini-exome sequence data

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data

Reply

The genetic dissection of Myo7a gene expression in the retinas of BXD mice

Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration